Variant report

Variant	rs74084812
Chromosome Location	chr13:51935705-51935706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51933288..51938259-chr13:52024808..52026901,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHRS12-8	chr13:51935701-51936371	ENSG00000269965.1

Variant related genes	Relation type
ENSG00000102786	Chromatin interaction
ENSG00000236778	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56035793	1.00[AMR][1000 genomes]
rs73492293	1.00[AMR][1000 genomes]
rs74084808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084838	1.00[AMR][1000 genomes]
rs74084842	1.00[AMR][1000 genomes]
rs74084850	1.00[AMR][1000 genomes]
rs74084858	1.00[AMR][1000 genomes]
rs74084862	1.00[AMR][1000 genomes]
rs74084885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084896	1.00[AMR][1000 genomes]
rs74087494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51900400-51938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:51906000-51944400	Weak transcription	Spleen	Spleen
3	chr13:51911800-51938600	Weak transcription	Pancreas	Pancrea
4	chr13:51913400-51944600	Weak transcription	Aorta	Aorta
5	chr13:51917600-51943200	Weak transcription	NHLF	lung
6	chr13:51917800-51942400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:51918400-51938600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:51918600-51945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:51919000-51944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:51920200-51935800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:51921400-51938400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:51921400-51938800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:51922400-51936600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:51922800-51941200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr13:51924000-51936200	Weak transcription	HUVEC	blood vessel
16	chr13:51924400-51938600	Weak transcription	A549	lung
17	chr13:51924800-51936600	Weak transcription	Primary B cells from cord blood	blood
18	chr13:51925800-51936400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr13:51927800-51936400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:51927800-51937200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:51929600-51938600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:51929800-51936800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:51930800-51938600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr13:51931600-51938600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr13:51931800-51936400	Weak transcription	Fetal Kidney	kidney
26	chr13:51932000-51945800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:51932000-51947400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr13:51932200-51941000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:51932400-51938600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr13:51932400-51938600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr13:51932400-51942400	Weak transcription	Thymus	Thymus
32	chr13:51932400-51944400	Weak transcription	Fetal Stomach	stomach
33	chr13:51932600-51936600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:51932600-51937400	Weak transcription	Fetal Lung	lung
35	chr13:51932600-51938800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:51932600-51944400	Weak transcription	Lung	lung
37	chr13:51932800-51938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:51932800-51938600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:51932800-51938600	Weak transcription	NHEK	skin
40	chr13:51932800-51943000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr13:51933000-51937600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr13:51933000-51938600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:51933000-51938600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:51933200-51938800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:51933400-51945400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr13:51933600-51936600	Weak transcription	Primary T cells from cord blood	blood
47	chr13:51933600-51938400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:51933600-51938600	Weak transcription	Ovary	ovary
49	chr13:51933600-51947600	Weak transcription	Brain Substantia Nigra	brain
50	chr13:51933800-51935800	Weak transcription	Dnd41	blood

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